American Journal of Medical Genetics Part A: Vol 194, No 11

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American Journal of Medical Genetics Part A

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American Journal of Medical Genetics Part A: Volume 194, Issue 11

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ISSUE INFORMATION

Table of Contents, Volume 194A, Number 11, November 2024

THE AJMG SEQUENCE: DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY BY ROXANNE NELSON

Genetic Factors Linked to Early Clinical Trial Termination

Potential Therapy Corrects Calcium Signaling in Timothy Syndrome

In This Issue

ORIGINAL ARTICLE

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry

Impact of definitive surgery for esophageal atresia on long-term outcomes in patients with trisomy 18

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic

The motivations and methods behind sharing a pediatric Prader–Willi syndrome diagnosis

Sleep correlates of behavior functioning in Cornelia de Lange syndrome

Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries

Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants

Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features

Medical students' reproductive health perspectives: Pre- and post-Roe v Wade reversal

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals

Molecular autopsy in Chinese sudden cardiac death in the young

Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study

CASE REPORT

Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease

Long-term survival of an infant with complete tetraploidy: A case report

A novel missense variant in HIKESHI: Clinical phenotype, in vitro functional testing, and potential for gene therapy

GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy

Two siblings with acute necrotizing encephalopathy associated with variants of LARS1

ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy

Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings

COL4A1-related disorder as a mimic of congenital TORCHES infection—Expanding the clinical, neuroimaging and genotype spectrum

A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion

First copy number variant in trans with single nucleotide variant in CCN6 causing progressive pseudorheumatoid dysplasia revealed by genome sequencing and deep phenotyping in monozygotic twins

Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios

Expansion of the phenotypic spectrum of KARS1-related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation

RESEARCH LETTER

EMILIN1 gene variant associated with polyneuropathy, language impairment, and motor dysfunction

CORRESPONDENCE

Unveiling hidden genetic complexity: Coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy

ERRATUM

Erratum to “Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases”

This article corrects the following:

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

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